Metadata | |
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ID | DOID:0111517 |
Name | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
Definition | A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. https://www.ncbi.nlm.nih.gov/pubmed/10926541 |
Xrefs | |
Synonyms |
autosomal dominant progressive external ophthalmoplegia 2 [EXACT] PEOA2 [EXACT] |
Parent Relationships |